Incidental Mutation 'R1014:Arg1'
| ID |
96024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arg1
|
| Ensembl Gene |
ENSMUSG00000019987 |
| Gene Name |
arginase, liver |
| Synonyms |
Arg-1, AI, PGIF |
| MMRRC Submission |
039118-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R1014 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
24791105-24803368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24792758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 159
(V159L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020159]
[ENSMUST00000020161]
[ENSMUST00000092646]
[ENSMUST00000176285]
|
| AlphaFold |
Q61176 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020159
|
| SMART Domains |
Protein: ENSMUSP00000020159
Gene: ENSMUSG00000019984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
3 |
1310 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020161
AA Change: V159L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020161
Gene: ENSMUSG00000019987
AA Change: V159L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arginase
|
6 |
305 |
1.4e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092646
|
| SMART Domains |
Protein: ENSMUSP00000090316
Gene: ENSMUSG00000019984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
4 |
1316 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176285
|
| SMART Domains |
Protein: ENSMUSP00000135232
Gene: ENSMUSG00000019984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med23
|
1 |
51 |
4.4e-14 |
PFAM |
|
Pfam:Med23
|
48 |
950 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218260
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a null allele show postnatal lethality, hyperammonemia, argininemia, altered plasma levels of other amino acids, enlarged pale livers, and abnormal hepatocytes. Mice homozygous for a different null allele show postnatal lethality, andincreased macrophage nitric oxide production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
C |
4: 126,400,578 (GRCm39) |
R712G |
probably damaging |
Het |
| Caap1 |
C |
T |
4: 94,437,383 (GRCm39) |
C193Y |
probably benign |
Het |
| Cdh12 |
A |
T |
15: 21,492,706 (GRCm39) |
M242L |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,340,354 (GRCm39) |
|
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,674 (GRCm39) |
T101A |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,638 (GRCm39) |
C407R |
probably damaging |
Het |
| Ebf4 |
T |
C |
2: 130,207,388 (GRCm39) |
S484P |
probably benign |
Het |
| Gm10300 |
A |
G |
4: 131,802,023 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,808,645 (GRCm39) |
I105T |
possibly damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,132,306 (GRCm39) |
|
probably null |
Het |
| Musk |
T |
C |
4: 58,354,156 (GRCm39) |
L403P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,054,274 (GRCm39) |
K363R |
possibly damaging |
Het |
| Nadk2 |
T |
C |
15: 9,091,334 (GRCm39) |
F202L |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,077,355 (GRCm39) |
T897M |
possibly damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,383 (GRCm39) |
W86R |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,684,928 (GRCm39) |
D465G |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,556,422 (GRCm39) |
L584Q |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,303 (GRCm39) |
L561P |
probably damaging |
Het |
| Pck2 |
A |
G |
14: 55,779,867 (GRCm39) |
S12G |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,353 (GRCm39) |
D726G |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,542,194 (GRCm39) |
A799E |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,662,739 (GRCm39) |
Y117C |
probably benign |
Het |
| Poldip2 |
T |
A |
11: 78,405,988 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppm1d |
C |
A |
11: 85,227,980 (GRCm39) |
H299N |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,643 (GRCm39) |
Y911C |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rtf1 |
T |
G |
2: 119,550,727 (GRCm39) |
S329A |
possibly damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,054,882 (GRCm39) |
I841T |
probably benign |
Het |
| Slc2a3 |
T |
C |
6: 122,708,525 (GRCm39) |
I367V |
possibly damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,194,993 (GRCm39) |
T251A |
probably damaging |
Het |
| Spryd3 |
T |
A |
15: 102,041,966 (GRCm39) |
N19Y |
probably damaging |
Het |
| Tll2 |
A |
T |
19: 41,092,290 (GRCm39) |
Y516N |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,803,242 (GRCm39) |
G849R |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,583,192 (GRCm39) |
E376G |
probably damaging |
Het |
| Zfp318 |
GAA |
GAANAA |
17: 46,723,462 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Arg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02011:Arg1
|
APN |
10 |
24,792,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02889:Arg1
|
APN |
10 |
24,791,653 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0180:Arg1
|
UTSW |
10 |
24,792,728 (GRCm39) |
missense |
probably benign |
|
|
R0256:Arg1
|
UTSW |
10 |
24,792,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0588:Arg1
|
UTSW |
10 |
24,796,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1327:Arg1
|
UTSW |
10 |
24,796,702 (GRCm39) |
splice site |
probably null |
|
|
R1965:Arg1
|
UTSW |
10 |
24,792,762 (GRCm39) |
splice site |
probably null |
|
|
R2071:Arg1
|
UTSW |
10 |
24,798,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2118:Arg1
|
UTSW |
10 |
24,796,621 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4158:Arg1
|
UTSW |
10 |
24,798,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Arg1
|
UTSW |
10 |
24,798,536 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5741:Arg1
|
UTSW |
10 |
24,793,897 (GRCm39) |
missense |
probably benign |
|
|
R5793:Arg1
|
UTSW |
10 |
24,796,540 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7453:Arg1
|
UTSW |
10 |
24,791,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7634:Arg1
|
UTSW |
10 |
24,791,627 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7760:Arg1
|
UTSW |
10 |
24,803,361 (GRCm39) |
start gained |
probably benign |
|
|
R7803:Arg1
|
UTSW |
10 |
24,792,689 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9148:Arg1
|
UTSW |
10 |
24,796,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAAGGTCTCTTCCATCACCTTG -3'
(R):5'- CTGGGAAGCACTTATCGGAACCAC -3'
Sequencing Primer
(F):5'- GATCACTGTAAGTCCTGTGAACTG -3'
(R):5'- CACTTATCGGAACCACAGGAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation